NRL, neural retina leucine zipper, 4901

N. diseases: 61; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE We found upregulation of the RHO promoter by p.M96T protein similar to that shown by other missense NRL mutations that cause adRP. 21981118 2012
dbSNP: rs779710488
rs779710488
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.010 GeneticVariation BEFREE The p.E121K variant of NR2E3, which reportedly caused enhanced S-cone syndrome (ESCS) in Caucasians, was found concurrently in RP patients (13.4%) and control subjects from Hong Kong (10.5%) and Beijing (12.8%). 19933183 2010
dbSNP: rs199691910
rs199691910
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. 17335001 2007
dbSNP: rs201358563
rs201358563
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. 17335001 2007
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 12796249 2003
dbSNP: rs794727281
rs794727281
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE We identified 3 novel missense mutations in a total of 4 unrelated patients with dominant retinitis pigmentosa: Ser50Pro, Ser50Leu (2 patients), and Pro51Thr. 11879142 2002
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE A second missense mutation Gly122Glu has been observed in a simplex RP patient that may represent a sporadic case of retinitis pigmentosa.Hum Mutat 17:520, 2001. 11385710 2001
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0854723
Disease:
Retinal Dystrophies 		0.010 GeneticVariation BEFREE The NRL S50T mutation represents another example of a 'founder effect' in a dominantly inherited retinal dystrophy. 11039579 2000
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.020 GeneticVariation BEFREE In another family a variant, p.M96T in the NRL gene was detected; this variant was previously reported as probably causing adRP. 23534816 2013
dbSNP: rs397514516
rs397514516
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.020 GeneticVariation BEFREE Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa. 21981118 2012
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.020 GeneticVariation BEFREE To determine the characteristic features of the autosomal dominant retinitis pigmentosa phenotype associated with the NRL Ser50Thr mutation in affected individuals from 4 related families. 12796249 2003
dbSNP: rs104894459
rs104894459
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.020 GeneticVariation BEFREE HphI restriction analysis followed by direct sequencing of the amplified NRL exon 2 product demonstrated the presence of the NRL S50T sequence change in three adRP families. 11039579 2000
dbSNP: rs743271
rs743271
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2071586
rs2071586
Entrez Id: 4901;5106
Gene Symbol: NRL;PCK2
NRL;PCK2
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa. 21981118 2012
dbSNP: rs104894463
rs104894463
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 17335001 2007
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 17335001 2007
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. 15994872 2005
dbSNP: rs104894463
rs104894463
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. 15591106 2004
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. 15591106 2004
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. 11879142 2002
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 11385710 2001
dbSNP: rs757038765
rs757038765
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834329
Disease:
RETINITIS PIGMENTOSA 27 		0.700 GeneticVariation UNIPROT A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 10192380 1999
dbSNP: rs104894463
rs104894463
Entrez Id: 4901
Gene Symbol: NRL
NRL
CUI: C1834330
Disease:
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 		G 0.700 CausalMutation CLINVAR